The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas...

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Bibliographic Details
Published inJornal brasileiro de patologia e medicina laboratorial Vol. 56
Main Authors Vargas, Carmen R., Deon, Marion, Sitta, Angela, Coelho, Daniella M., Silva, Patricia D., Murussi, Larissa, Fleith, Laura V., Gravina, Luis Pablo, Crespo, Carolina, Wajner, Moacir, Sanseverino, Maria Teresa V.
Format Journal Article
LanguageEnglish
Published Sociedade Brasileira de Patologia Clínica 2020
Subjects
acylcarnitines
fasting
MCADD
MEDICAL LABORATORY TECHNOLOGY
MEDICINE, RESEARCH & EXPERIMENTAL
mitochondrial β-oxidation defects
organic acids
PATHOLOGY
mitochondrial β-oxidation defects
ácidos orgânicos
ayuno
jejum
MCADD
acilcarnitinas
defectos de la beta-oxidación mitocondrial
fasting
ácidos orgánicos
acylcarnitines
defeitos da betaoxidação mitocondrial
organic acids
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Summary:ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil.
ISSN:1676-2444
1678-4774
1678-4774
DOI:10.5935/1676-2444.20200011